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本文引用的文献

1
Chronic lymphocytic leukemia: A prognostic model comprising only two biomarkers (IGHV mutational status and FISH cytogenetics) separates patients with different outcome and simplifies the CLL-IPI.慢性淋巴细胞白血病:仅包含两个生物标志物(IGHV 突变状态和 FISH 细胞遗传学)的预后模型可将具有不同结局的患者区分开来,并简化 CLL-IPI。
Am J Hematol. 2017 Apr;92(4):375-380. doi: 10.1002/ajh.24660. Epub 2017 Feb 13.
2
Change in IgHV Mutational Status of CLL Suggests Origin From Multiple Clones.慢性淋巴细胞白血病(CLL)免疫球蛋白重链可变区(IgHV)突变状态的改变提示其起源于多个克隆。
Clin Lymphoma Myeloma Leuk. 2017 Feb;17(2):97-99. doi: 10.1016/j.clml.2016.11.008. Epub 2016 Nov 21.
3
Targeted deep sequencing reveals clinically relevant subclonal IgHV rearrangements in chronic lymphocytic leukemia.靶向深度测序揭示慢性淋巴细胞白血病中具有临床相关性的亚克隆 IgHV 重排。
Leukemia. 2017 Apr;31(4):837-845. doi: 10.1038/leu.2016.307. Epub 2016 Oct 31.
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Validation of the CLL-IPI and comparison with the MDACC prognostic index in newly diagnosed patients.新诊断患者中慢性淋巴细胞白血病国际预后指数(CLL-IPI)的验证及其与MD安德森癌症中心预后指数的比较。
Blood. 2016 Oct 20;128(16):2093-2095. doi: 10.1182/blood-2016-07-728261. Epub 2016 Aug 22.
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The chronic lymphocytic leukemia international prognostic index predicts time to first treatment in early CLL: Independent validation in a prospective cohort of early stage patients.慢性淋巴细胞白血病国际预后指数可预测早期慢性淋巴细胞白血病首次治疗时间:对早期患者前瞻性队列的独立验证
Am J Hematol. 2016 Nov;91(11):1090-1095. doi: 10.1002/ajh.24493. Epub 2016 Aug 8.
6
Double IGHV DNA gene rearrangements in CLL: influence of mixed-mutated and -unmutated rearrangements on outcomes in CLL.慢性淋巴细胞白血病中的双IGHV DNA基因重排:混合突变与未突变重排对慢性淋巴细胞白血病预后的影响
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Chemoimmunotherapy Versus Targeted Treatment in Chronic Lymphocytic Leukemia: When, How Long, How Much, and in Which Combination?慢性淋巴细胞白血病的化疗免疫疗法与靶向治疗:何时、多久、多少剂量以及采用何种联合方式?
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Should IGHV status and FISH testing be performed in all CLL patients at diagnosis? A systematic review and meta-analysis.IGHV 状态和 FISH 检测是否应在所有 CLL 患者初诊时进行?系统评价和荟萃分析。
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慢性淋巴细胞白血病中的IGHV突变状态检测

IGHV mutational status testing in chronic lymphocytic leukemia.

作者信息

Crombie Jennifer, Davids Matthew S

机构信息

Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.

出版信息

Am J Hematol. 2017 Dec;92(12):1393-1397. doi: 10.1002/ajh.24808. Epub 2017 Jul 29.

DOI:10.1002/ajh.24808
PMID:28589701
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5675754/
Abstract

As the therapeutic landscape for chronic lymphocytic leukemia (CLL) continues to expand, biological predictors of response to therapy are becoming increasingly important. One such predictive biomarker is the mutational status of the variable region of the immunoglobulin heavy chain (IGHV) gene, which is a powerful predictor of duration of response and overall survival with chemoimmunotherapy (CIT). As this test may influence choice of therapy between CIT and novel agents, it is critical that providers understand how mutational status is determined and the limitations of testing. Here, we describe the details of IGHV mutational status testing, highlighting the appropriate way to interpret this information and best apply it to the care of patients with CLL.

摘要

随着慢性淋巴细胞白血病(CLL)的治疗前景不断拓展,治疗反应的生物学预测指标变得愈发重要。其中一个预测生物标志物是免疫球蛋白重链(IGHV)基因可变区的突变状态,它是化疗免疫疗法(CIT)反应持续时间和总生存期的有力预测指标。由于该检测可能会影响CIT与新型药物之间的治疗选择,因此医疗服务提供者了解突变状态如何确定以及检测的局限性至关重要。在此,我们描述IGHV突变状态检测的详细情况,强调解读该信息的恰当方式以及将其最佳应用于CLL患者护理的方法。